MCID: LMT001
MIFTS: 50

Limited Scleroderma

Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 12 15 17
Limited Cutaneous Systemic Sclerosis 12 54 60
Systemic Sclerosis Sine Scleroderma 54 60 74
Limited Cutaneous Systemic Scleroderma 54 60
Limited Systemic Sclerosis 54 60
Scleroderma, Limited 45 74
Progressive Systemic Sclerosis Sine Scleroderma 54
Systemic Sclerosis, Limited 12
Scleroderma, Sine 54
Crest Syndrome 74

Characteristics:

Orphanet epidemiological data:

60
limited cutaneous systemic sclerosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Adult; Age of death: adult;
limited systemic sclerosis
Inheritance: Not applicable; Age of onset: Adult;

Classifications:



Summaries for Limited Scleroderma

NIH Rare Diseases : 54 Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals. Management is aimed at treating the symptoms present in each affected individual. 

MalaCards based summary : Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to crest syndrome and systemic scleroderma. An important gene associated with Limited Scleroderma is CAV1 (Caveolin 1), and among its related pathways/superpathways are NF-kappaB Signaling and Immune response IFN alpha/beta signaling pathway. The drugs Bupivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are autoimmunity and hypopigmented skin patches

Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 crest syndrome 32.5 CENPB TOP1 UBTF
2 systemic scleroderma 30.5 CCN2 CENPA CENPB SNRNP70 TOP1
3 diffuse scleroderma 29.8 MNDA PYHIN1 TOP1
4 diffuse cutaneous systemic sclerosis 29.7 CAV1 CCN2 CCR6 HLA-DRB1 IFI16 IRF5
5 systemic lupus erythematosus 29.2 HLA-DRB1 IL2 IL2RA IRF5 KIAA0319L SNRNP70
6 reynolds syndrome 11.4
7 telangiectasia, hereditary hemorrhagic, type 4 11.2
8 rheumatoid factor-negative juvenile idiopathic arthritis 10.3 HLA-DRB1 IL2RA
9 pure red-cell aplasia 10.2 HLA-DRB1 IL2 IL2RA
10 mumps 10.2 HLA-DRB1 IL2 IL2RA
11 recurrent respiratory papillomatosis 10.2 HLA-DRB1 IL2
12 autoimmune disease 10.2 HLA-DRB1 IL2 IL2RA IRF5
13 dyskinesia of esophagus 10.2 CENPB TOP1 UBTF
14 berylliosis 10.2 HLA-DRB1 IL2
15 sarcoidosis 1 10.2 HLA-DRB1 IL2 IL2RA
16 cervicitis 10.1 IL2 IL2RA
17 wolff-parkinson-white syndrome 10.1
18 dermatomyositis 10.1
19 uveitis 10.1
20 pulmonary systemic sclerosis 10.1
21 antiphospholipid syndrome 10.1
22 anterior uveitis 10.1
23 linear scleroderma 10.1
24 polymyositis 10.1
25 scleroderma, familial progressive 10.0
26 pulmonary hypertension 10.0
27 pulmonary hypertension, primary, 1 10.0
28 arthritis 10.0
29 cardiac tamponade 10.0
30 rere-related disorders 10.0
31 autoimmune disease of musculoskeletal system 9.9 CENPB IL2 IRF5 SNRNP70 TOP1
32 leiomyosarcoma 9.9
33 rheumatic disease 9.9 CENPA CENPB HLA-DRB1 IL2RA TOP1
34 pulmonary fibrosis 9.9
35 nephrotic syndrome 9.9
36 anca-associated vasculitis 9.9
37 hemopericardium 9.9
38 pericardial effusion 9.9
39 biliary cirrhosis, primary, 1 9.9
40 glomerulonephritis 9.9
41 primary biliary cirrhosis 9.9
42 calcinosis 9.9
43 vasculitis 9.9
44 primary biliary cholangitis 9.9
45 arteries, anomalies of 9.9
46 breast cancer 9.9
47 myositis 9.9
48 rheumatoid arthritis 9.9
49 myocardial infarction 9.9
50 aplastic anemia 9.9

Graphical network of the top 20 diseases related to Limited Scleroderma:



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002960
2 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
3 narrow foramen obturatorium 60 33 hallmark (90%) Very frequent (99-80%) HP:0100958
4 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
5 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
6 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
7 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
8 mucosal telangiectasiae 60 33 frequent (33%) Frequent (79-30%) HP:0100579
9 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
10 pulmonary fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002206
11 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
12 contractures involving the joints of the feet 60 33 occasional (7.5%) Occasional (29-5%) HP:0008366
13 joint contracture of the hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0009473
14 abnormality of skin pigmentation 60 Very frequent (99-80%)
15 abnormality of the skin 60 Very frequent (99-80%)

Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2, Phase 3 38396-39-3, 2180-92-9 2474
2 Anesthetics Phase 2, Phase 3,Not Applicable
3 Peripheral Nervous System Agents Phase 2, Phase 3
4 Central Nervous System Depressants Phase 2, Phase 3
5 Anesthetics, Local Phase 2, Phase 3
6
Ambrisentan Approved, Investigational Not Applicable 177036-94-1 6918493
7
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
8
Racepinephrine Approved Not Applicable 329-65-7 838
9
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
10 Antihypertensive Agents Not Applicable
11 Mitogens
12 Autoantibodies
13 Immunologic Factors
14 Epinephryl borate Not Applicable
15 Analgesics Not Applicable
16 Analgesics, Opioid Not Applicable
17 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exparel as a Nerve Block for Severe Hand Pain Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
2 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
3 Efficacy of Ambrisentan in Limited Scleroderma Patients in Improving Blood Flow to Hands or Feet Completed NCT01072669 Not Applicable ambrisentan
4 Stimulatory Autoantibodies to the Platelet-Derived Growth Factor Receptor (PDGFR) in Patients With Systemic Sclerosis Completed NCT00667134
5 Transversalis Fascial Plane Nerve Block in Iliac Crest Bone Graft Completed NCT01133730 Not Applicable Active treatment;Placebo Arm
6 Systemic Sclerosis Clinical and Biomarker Study Withdrawn NCT02531009

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

MalaCards organs/tissues related to Limited Scleroderma:

42
Skin, Bone, Lung, Heart, Breast, Endothelial, Thyroid

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 114)
# Title Authors Year
1
Rapidly progressive endomyocardial fibrosis and heart failure in a 17-year-old female with limited cutaneous systemic sclerosis. ( 30668207 )
2019
2
Unexpected acute lymphocytic virus-negative myocarditis in a patient with limited cutaneous systemic sclerosis: a case report. ( 30269630 )
2019
3
The impact of transducer frequency in ultrasound evaluation of subclinical skin involvement in limited cutaneous systemic sclerosis patients. ( 30873945 )
2019
4
Abnormalities in endothelial form of nitric oxide synthase is pathogenic in limited cutaneous systemic sclerosis. ( 30980594 )
2019
5
Correlation between circulating fibrocytes and dermal thickness in limited cutaneous systemic sclerosis patients: a pilot study. ( 31056725 )
2019
6
Changes in disability and their relationship with skin thickening, in diffuse and limited cutaneous systemic sclerosis: a retrospective cohort study. ( 30394164 )
2019
7
Assessing the response of morphea and limited scleroderma to tranilast: a small prospective study comparing topical corticosteroids to a combination of topical corticosteroids and tranilast. ( 30013378 )
2018
8
Lymphedema secondary to limited cutaneous systemic sclerosis. ( 29909388 )
2018
9
Spontaneous pneumomediastinum in limited cutaneous systemic sclerosis and myositis overlap. ( 30065052 )
2018
10
Radiological pleuroparenchymal fibroelastosis associated to limited cutaneous systemic sclerosis: a case report. ( 29776440 )
2018
11
Severe gangrene in a patient with anti-RNP positive limited cutaneous systemic sclerosis/rheumatoid arthritis overlap syndrome caused by vasculopathy and vasculitis. ( 30071937 )
2018
12
Anti-RNA polymerase III antibody-associated scleroderma renal crisis in a patient with limited cutaneous systemic sclerosis: A case report. ( 26942857 )
2018
13
The effects of upper and lower limb exercise on the microvascular reactivity in limited cutaneous systemic sclerosis patients. ( 29871697 )
2018
14
Calcific prepatellar bursitis in a patient with limited cutaneous systemic sclerosis. ( 29228498 )
2017
15
Severe Calcinosis in Limited Cutaneous Systemic Sclerosis. ( 28824081 )
2017
16
Cutaneous calcinosis in a patient with limited scleroderma: CREST Syndrome. ( 29308290 )
2017
17
Upper gastrointestinal bleeding (watermelon stomach) in a patient with limited scleroderma (CREST syndrome). ( 27353193 )
2017
18
Limited cutaneous systemic sclerosis arising in a patient with Graves' disease. ( 28130289 )
2017
19
Successful long-term (22 year) treatment of limited scleroderma using therapeutic plasma exchange: Is blood rheology the key? ( 27340761 )
2017
20
Improvement of peripheral artery disease with Sildenafil and Bosentan combined therapy in a patient with limited cutaneous systemic sclerosis: A case report. ( 28640077 )
2017
21
Limited cutaneous systemic sclerosis skin demonstrates distinct molecular subsets separated by a cardiovascular development gene expression signature. ( 28676069 )
2017
22
Morphea Sculpted in Silica: A Case Report of Limited Cutaneous Systemic Sclerosis in a Woman with Long-Time Exposure to Silica Dust. ( 28786264 )
2017
23
Fluoroscopy-guided intra-articular steroid injection for sternoclavicular joint arthritis secondary to limited cutaneous systemic sclerosis: a case report. ( 28119772 )
2017
24
Anticentriole antibody-positive limited cutaneous systemic sclerosis. ( 28186355 )
2017
25
Subclinical dermal involvement is detectable by high frequency ultrasound even in patients with limited cutaneous systemic sclerosis. ( 28320447 )
2017
26
Nailfold digital capillaroscopic findings in patients with diffuse and limited cutaneous systemic sclerosis. ( 28386138 )
2017
27
Proteomic Investigation of Dermal Fibroblasts Isolated from Affected and Unaffected Skin Samples from Patients with Limited Cutaneous Systemic Sclerosis: 2 Distinct Entities? ( 27909082 )
2017
28
Hydroxychloroquine-induced cardiomyopathy in a patient with limited cutaneous systemic sclerosis. ( 28004183 )
2017
29
Anti-RNA polymerase III antibody positive limited cutaneous systemic sclerosis with cryoglobulin-induced digital gangrene. ( 27739106 )
2017
30
Active subcutaneous calcinosis demonstrated by fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography in a case of limited cutaneous systemic sclerosis. ( 27095870 )
2016
31
Fibrillary glomerulonephritis associated with limited scleroderma: a case report. ( 26709524 )
2016
32
Systemic sclerosis - a multi-purpose use of ultrasound: Editorial comment on: G. Pracoń, M. Płaza, M. Walentowska-Janowicz, I. Sudoł-Szopińska The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 27104009 )
2016
33
Survival and organ involvement in patients with limited cutaneous systemic sclerosis and anti-topoisomerase-I antibodies: determined by skin subtype or auto-antibody subtype? A long-term follow-up study. ( 27520796 )
2016
34
Peripheral arterial bypass surgery for intractable wounds caused by limited cutaneous systemic sclerosis. ( 27129608 )
2016
35
Left atrial impression by a dilated oesophagus in a patient with limited cutaneous systemic sclerosis. ( 26823346 )
2016
36
Osteonecrosis of multiple joints in a patient with limited scleroderma/CREST syndrome. ( 25807102 )
2015
37
The value of ultrasound in the diagnosis of limited scleroderma - a case report. ( 26675049 )
2015
38
Raynaud's phenomenon in limited cutaneous systemic sclerosis. ( 26715139 )
2015
39
The HLA-B*35 allele modulates ER stress, inflammation and proliferation in PBMCs from Limited Cutaneous Systemic Sclerosis patients. ( 26669670 )
2015
40
Increased Serum Levels of the IL-33 Neutralizing sST2 in Limited Cutaneous Systemic Sclerosis. ( 26095613 )
2015
41
Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report. ( 25393970 )
2014
42
Serum levels of soluble carbonic anhydrase IX are decreased in patients with diffuse cutaneous systemic sclerosis compared to those with limited cutaneous systemic sclerosis. ( 25030848 )
2014
43
Improved survival in limited scleroderma-related pulmonary artery hypertension. ( 23361526 )
2014
44
Systemic sclerosis sine scleroderma and limited cutaneous systemic sclerosis: similarities and differences. ( 24776173 )
2014
45
Longitudinal melanonychia associated with limited cutaneous systemic sclerosis. ( 24561421 )
2014
46
Limited scleroderma with pauci-immune glomerulonephritis in the presence of renal cell carcinoma. ( 23656799 )
2013
47
Increased expression of endoplasmic reticulum stress and unfolded protein response genes in peripheral blood mononuclear cells from patients with limited cutaneous systemic sclerosis and pulmonary arterial hypertension. ( 23400395 )
2013
48
[A case of neuromyelitis optica spectrum disorder associated with a limited cutaneous systemic sclerosis and Sjögren syndrome]. ( 24097316 )
2013
49
Infected calcinosis of the knee in limited cutaneous systemic sclerosis. ( 23028028 )
2012
50
Pauci-immune crescentic glomerulonephritis in limited cutaneous systemic sclerosis. ( 22644090 )
2012

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.65 CENPA CENPB CENPC CENPS TOP1
2 kinetochore GO:0000776 9.58 CENPA CENPC CENPS
3 condensed chromosome kinetochore GO:0000777 9.54 CENPA CENPC CENPS
4 chromosome, centromeric region GO:0000775 9.46 CENPA CENPB CENPC CENPS
5 condensed nuclear chromosome kinetochore GO:0000778 9.32 CENPA CENPC
6 condensed nuclear chromosome, centromeric region GO:0000780 9.13 CENPA CENPB CENPC
7 nuclear pericentric heterochromatin GO:0031618 8.8 CENPA CENPB CENPC

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.83 HLA-DRB1 IFI16 IL2 IL2RA IRF5
2 positive regulation of T cell differentiation GO:0045582 9.46 IL2 IL2RA
3 regulation of regulatory T cell differentiation GO:0045589 9.4 IL2 IL2RA
4 inflammatory response to antigenic stimulus GO:0002437 9.37 HLA-DRB1 IL2RA
5 CENP-A containing nucleosome assembly GO:0034080 9.33 CENPA CENPC CENPS
6 interleukin-2-mediated signaling pathway GO:0038110 9.32 IL2 IL2RA
7 negative regulation of lymphocyte proliferation GO:0050672 9.26 IL2 IL2RA
8 regulation of T cell homeostatic proliferation GO:0046013 8.96 IL2 IL2RA
9 kinetochore assembly GO:0051382 8.8 CENPA CENPC CENPS

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.55 CENPA CENPB CENPS TOP1 UBTF
2 double-stranded DNA binding GO:0003690 9.43 CENPS IFI16 TOP1
3 DNA binding GO:0003677 9.32 CENPA CENPB CENPC CENPS IFI16 IRF5
4 centromeric DNA binding GO:0019237 8.96 CENPB CENPC

Sources for Limited Scleroderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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